Incidental Mutation 'R5406:Rpa2'
ID501010
Institutional Source Beutler Lab
Gene Symbol Rpa2
Ensembl Gene ENSMUSG00000028884
Gene Namereplication protein A2
SynonymsRPA34, 30-kDa protein, Rf-A2
MMRRC Submission 042976-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #R5406 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location132768332-132778752 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 132776248 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 3 (A3S)
Ref Sequence ENSEMBL: ENSMUSP00000123780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102561] [ENSMUST00000156968]
Predicted Effect probably benign
Transcript: ENSMUST00000102561
AA Change: A176S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099621
Gene: ENSMUSG00000028884
AA Change: A176S

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:RPA_C 166 262 1.7e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153046
Predicted Effect probably benign
Transcript: ENSMUST00000156968
AA Change: A3S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123780
Gene: ENSMUSG00000028884
AA Change: A3S

DomainStartEndE-ValueType
Pfam:RPA_C 1 70 3.6e-17 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,387 V17D probably damaging Het
Abcb1a C A 5: 8,702,946 Q566K probably damaging Het
Adam26a A T 8: 43,569,104 C450S probably damaging Het
Adar C T 3: 89,736,111 P433L probably damaging Het
Aldh1a2 G T 9: 71,255,121 A151S possibly damaging Het
Arsk T A 13: 76,093,947 H69L probably benign Het
Atf6b T A 17: 34,653,797 Y600* probably null Het
Blk C A 14: 63,380,731 G242V probably damaging Het
Bmt2 A T 6: 13,677,832 M1K probably null Het
Catsperg1 G A 7: 29,185,523 T891M probably damaging Het
Ccdc32 A C 2: 119,022,079 S131A possibly damaging Het
Cdh8 A G 8: 99,196,370 V298A probably damaging Het
Cfap54 T A 10: 93,001,858 Q1060L probably benign Het
Cfap58 G A 19: 48,029,102 M800I possibly damaging Het
Cntn5 A T 9: 9,833,460 V362D probably damaging Het
Fkbpl G A 17: 34,645,329 A24T probably benign Het
G2e3 T C 12: 51,372,666 S699P probably damaging Het
Gbp4 G T 5: 105,119,521 Q511K possibly damaging Het
Gdap2 T A 3: 100,191,675 I361N probably damaging Het
Ino80c T A 18: 24,112,762 H92L probably benign Het
Lipo4 A G 19: 33,503,218 V250A probably benign Het
Llgl1 C T 11: 60,713,184 R1055W probably damaging Het
Lrriq3 T C 3: 155,129,501 probably null Het
Mmp1a A G 9: 7,467,293 E290G probably damaging Het
Ncstn A G 1: 172,072,164 V317A probably benign Het
Nfxl1 G A 5: 72,556,198 T134I possibly damaging Het
Nup155 A T 15: 8,153,638 probably null Het
Nup214 C A 2: 32,002,607 P680T probably damaging Het
Olfr805 G A 10: 129,722,930 L205F probably damaging Het
Olfr871 A G 9: 20,213,158 K270E probably benign Het
Olfr874 A G 9: 37,746,647 N171S probably benign Het
Olfr877 G A 9: 37,855,219 V134I probably benign Het
Pkd2 T C 5: 104,480,332 F424S probably damaging Het
Plb1 A G 5: 32,341,915 D1074G probably damaging Het
Ppm1l T C 3: 69,317,594 S10P possibly damaging Het
Rnf213 A G 11: 119,440,808 H2281R probably damaging Het
Sardh A G 2: 27,211,084 V698A possibly damaging Het
Saxo2 A T 7: 82,635,378 C91S probably benign Het
Slc3a2 T C 19: 8,708,042 D198G probably damaging Het
Spata31d1d T A 13: 59,728,778 E314D probably benign Het
Sptlc3 T C 2: 139,546,478 V130A probably benign Het
Stpg3 C A 2: 25,213,568 E115* probably null Het
Tbcd T A 11: 121,452,101 D19E probably benign Het
Xrcc3 T C 12: 111,812,111 D2G probably damaging Het
Other mutations in Rpa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01986:Rpa2 APN 4 132771880 missense probably benign 0.04
IGL01986:Rpa2 APN 4 132771881 missense probably benign 0.00
IGL03011:Rpa2 APN 4 132775047 missense probably benign
R0062:Rpa2 UTSW 4 132777814 missense probably damaging 1.00
R0062:Rpa2 UTSW 4 132777814 missense probably damaging 1.00
R0094:Rpa2 UTSW 4 132770582 missense probably damaging 1.00
R0094:Rpa2 UTSW 4 132770582 missense probably damaging 1.00
R1168:Rpa2 UTSW 4 132771860 missense probably damaging 1.00
R1812:Rpa2 UTSW 4 132768685 missense probably benign 0.00
R2126:Rpa2 UTSW 4 132768788 critical splice donor site probably null
R3051:Rpa2 UTSW 4 132775126 splice site probably null
R4010:Rpa2 UTSW 4 132770649 critical splice donor site probably null
R4223:Rpa2 UTSW 4 132776744 missense probably damaging 1.00
R5175:Rpa2 UTSW 4 132777840 missense probably damaging 1.00
R6190:Rpa2 UTSW 4 132775020 missense probably benign 0.13
R6413:Rpa2 UTSW 4 132773845 missense probably benign 0.00
R7572:Rpa2 UTSW 4 132768703 missense possibly damaging 0.94
R8503:Rpa2 UTSW 4 132773869 missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GTGAAGTCGTAGTGCCAGAG -3'
(R):5'- GGCTGCAAGATAACCTCCCATC -3'

Sequencing Primer
(F):5'- CTTTCCGGGGACAGGGAATG -3'
(R):5'- TGCAAGATAACCTCCCATCATTTGG -3'
Posted On2017-12-01